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JIMD Reports|March 31, 2015
Effect and Tolerability of Agalsidase Alfa in Patients with Fabry Disease Who Were Treatment Naïve or Formerly Treated with Agalsidase Beta or Agalsidase AlfaOzlem Goker-Alpan, Khan Nedd, Suma P Shankar, et al.
JIMD Reports|February 11, 2015
Lack of glibenclamide response in a case of permanent neonatal diabetes caused by incomplete inactivation of glucokinaseJosep Oriola, Francisca Moreno, Angel Gutiérrez-Nogués, et al.
JIMD Reports|February 11, 2015
Carnitine levels in skeletal muscle, blood, and urine in patients with primary carnitine deficiency during intermission of L-carnitine supplementationJ Rasmussen, J A Thomsen, J H Olesen, et al.
JIMD Reports|March 28, 2015
Arginine Functionally Improves Clinically Relevant Human Galactose-1-Phosphate Uridylyltransferase (GALT) Variants Expressed in a Prokaryotic ModelAna I Coelho, Matilde Trabuco, Maria João Silva, et al.
JIMD Reports|March 13, 2015
Bladder and Bowel Dysfunction Is Common in Both Men and Women with Mutation of the ABCD1 Gene for X-Linked AdrenoleukodystrophyJohann Hofereiter, Matthew D Smith, Jai Seth, et al.
JIMD Reports|March 13, 2015
Extreme Contrast of Postprandial Remnant-Like Particles Formed in Abetalipoproteinemia and Homozygous Familial HypobetalipoproteinemiaMasa-Aki Kawashiri, Hayato Tada, Marowa Hashimoto, et al.
JIMD Reports|January 24, 2015
Carnitine-acylcarnitine translocase deficiency: experience with four cases in Spain and review of the literatureIsidro Vitoria, Elena Martín-Hernández, Luis Peña-Quintana, et al.
JIMD Reports|January 24, 2015
Parkinsonism in phenylketonuria: a consequence of dopamine depletion?Marieke Velema, Erik Boot, Marc Engelen, et al.
JIMD Reports|February 2, 2015
A Novel Homozygous YARS2 Mutation in Two Italian Siblings and a Review of LiteratureAnna Ardissone, Eleonora Lamantea, Jade Quartararo, et al.
JIMD Reports|February 2, 2015
Newborn Screening for Homocystinuria Revealed a High Frequency of MAT I/III Deficiency in Iberian PeninsulaAna Marcão, María L Couce, Célia Nogueira, et al.
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